Gene: PDE5A

Alternate names for this Gene: CGB-PDE|CN5A|PDE5

Gene Summary: This gene encodes a cGMP-binding, cGMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family. This phosphodiesterase specifically hydrolyzes cGMP to 5'-GMP. It is involved in the regulation of intracellular concentrations of cyclic nucleotides and is important for smooth muscle relaxation in the cardiovascular system. Alternative splicing of this gene results in three transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 4

Location in Chromosome : 4q26

Description of this Gene: phosphodiesterase 5A

Type of Gene: protein-coding

rs66887589 in PDE5A gene and Diastolic blood pressure PMID 28135244 2017 Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.

PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.

rs10518335 in PDE5A gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1155577 in PDE5A gene and Platelet Count measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs66887589 in PDE5A gene and Systolic Pressure PMID 27841878 2017 Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation.